GEN1 — 1512 ClinVar variants
All ClinVar germline GEN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 954 flagged for review →
19 Conflicting · 61 Benign · 4 Benign/Likely benign · 381 Likely benign · 1047 Uncertain significance
Full GEN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 954
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GEN1 p.Ala540Val Conflicting Single submitter
- GEN1 p.Arg20His Conflicting Single submitter
- GEN1 p.Arg787Gln Conflicting Single submitter
- GEN1 p.Asn477Ser Conflicting Single submitter
-
GEN1 p.Asn571Ser
Conflicting
Single submitter
GEN1-related disorder
- GEN1 p.Asn828Ser Conflicting Single submitter
- GEN1 p.Glu122Lys Conflicting Single submitter
- GEN1 p.Glu864Lys Conflicting Single submitter
- GEN1 p.Leu689Val Conflicting Single submitter
- GEN1 p.Leu744Phe Conflicting Single submitter
- GEN1 p.Met45Ile Conflicting Single submitter
- GEN1 p.Met49Val Conflicting Single submitter
- GEN1 p.Pro481Ser Conflicting Single submitter
- GEN1 p.Pro724Leu Conflicting Single submitter
- GEN1 p.Ser842Asn Conflicting Single submitter
- GEN1 p.Ser877Tyr Conflicting Single submitter
- GEN1 p.Thr516Ala Conflicting Single submitter
- GEN1 p.Tyr639Cys Conflicting Single submitter
- GEN1 p.Val579Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 860
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 860
- GEN1 p.Ala135Ser Uncertain significance Multiple submitters
- GEN1 p.Ala197Thr Uncertain significance Multiple submitters
- GEN1 p.Ala447Val Uncertain significance Multiple submitters
- GEN1 p.Ala448Thr Uncertain significance Multiple submitters
- GEN1 p.Ala454Thr Uncertain significance Multiple submitters
- GEN1 p.Ala524Pro Uncertain significance Multiple submitters
- GEN1 p.Ala600Ser Uncertain significance Multiple submitters
- GEN1 p.Ala860Val Uncertain significance Multiple submitters
- GEN1 p.Arg20Cys Uncertain significance Multiple submitters
- GEN1 p.Arg20Leu Uncertain significance Multiple submitters
- GEN1 p.Arg240Trp Uncertain significance Multiple submitters
- GEN1 p.Arg275Cys Uncertain significance Multiple submitters
- GEN1 p.Arg275His Uncertain significance Multiple submitters
- GEN1 p.Arg302Cys Uncertain significance Multiple submitters
- GEN1 p.Arg302Leu Uncertain significance Multiple submitters
- GEN1 p.Arg358Ser Uncertain significance Multiple submitters
- GEN1 p.Arg406Leu Uncertain significance Multiple submitters
- GEN1 p.Arg787Trp Uncertain significance Multiple submitters
- GEN1 p.Arg898His Uncertain significance Multiple submitters
- GEN1 p.Arg904Ser Uncertain significance Multiple submitters
- GEN1 p.Asn154Asp Uncertain significance Multiple submitters
- GEN1 p.Asn173Asp Uncertain significance Multiple submitters
- GEN1 p.Asn315Asp Uncertain significance Multiple submitters
- GEN1 p.Asn368Thr Uncertain significance Multiple submitters
- GEN1 p.Asn4Lys Uncertain significance Multiple submitters
- GEN1 p.Asn571Ile Uncertain significance Multiple submitters
- GEN1 p.Asn576Asp Uncertain significance Multiple submitters
- GEN1 p.Asn627His Uncertain significance Multiple submitters
- GEN1 p.Asn885Lys Uncertain significance Multiple submitters
- GEN1 p.Asp428Asn Uncertain significance Multiple submitters
- GEN1 p.Asp514Ala Uncertain significance Multiple submitters
- GEN1 p.Asp514Tyr Uncertain significance Multiple submitters
- GEN1 p.Asp609Asn Uncertain significance Multiple submitters
- GEN1 p.Asp648Asn Uncertain significance Multiple submitters
- GEN1 p.Asp692His Uncertain significance Multiple submitters
- GEN1 p.Asp722Tyr Uncertain significance Multiple submitters
- GEN1 p.Asp869Val Uncertain significance Multiple submitters
- GEN1 p.Cys261Arg Uncertain significance Multiple submitters
- GEN1 p.Cys298Trp Uncertain significance Multiple submitters
- GEN1 p.Cys298Tyr Uncertain significance Multiple submitters
- GEN1 p.Cys413Arg Uncertain significance Multiple submitters
- GEN1 p.Cys497Ser Uncertain significance Multiple submitters
- GEN1 p.Cys497Tyr Uncertain significance Multiple submitters
- GEN1 p.Cys537Arg Uncertain significance Multiple submitters
- GEN1 p.Cys715Tyr Uncertain significance Multiple submitters
- GEN1 p.Gln103Arg Uncertain significance Multiple submitters
- GEN1 p.Gln251Arg Uncertain significance Multiple submitters
- GEN1 p.Gln488Arg Uncertain significance Multiple submitters
- GEN1 p.Gln670Lys Uncertain significance Multiple submitters
- GEN1 p.Gln729His Uncertain significance Multiple submitters
- GEN1 p.Gln899Arg Uncertain significance Multiple submitters
- GEN1 p.Gln899His Uncertain significance Multiple submitters
- GEN1 p.Gln8Lys Uncertain significance Multiple submitters
- GEN1 p.Glu293Lys Uncertain significance Multiple submitters
- GEN1 p.Glu386Lys Uncertain significance Multiple submitters
- GEN1 p.Glu475Gly Uncertain significance Multiple submitters
- GEN1 p.Glu566Ala Uncertain significance Multiple submitters
- GEN1 p.Glu613Lys Uncertain significance Multiple submitters
- GEN1 p.Glu617Lys Uncertain significance Multiple submitters
- GEN1 p.Glu884Gly Uncertain significance Multiple submitters
- GEN1 p.Gly268Asp Uncertain significance Multiple submitters
- GEN1 p.Gly811Val Uncertain significance Multiple submitters
-
GEN1 p.His178Asn
Uncertain significance
Multiple submitters
GEN1-related prostate cancer
- GEN1 p.His178Gln Uncertain significance Multiple submitters
- GEN1 p.His423Arg Uncertain significance Multiple submitters
- GEN1 p.His490Asn Uncertain significance Multiple submitters
- GEN1 p.His608Arg Uncertain significance Multiple submitters
- GEN1 p.His837Arg Uncertain significance Multiple submitters
- GEN1 p.Ile17Val Uncertain significance Multiple submitters
- GEN1 p.Ile226Thr Uncertain significance Multiple submitters
- GEN1 p.Ile316Ser Uncertain significance Multiple submitters
- GEN1 p.Ile400Val Uncertain significance Multiple submitters
- GEN1 p.Ile452Met Uncertain significance Multiple submitters
- GEN1 p.Ile463Met Uncertain significance Multiple submitters
- GEN1 p.Ile553Met Uncertain significance Multiple submitters
- GEN1 p.Ile577Thr Uncertain significance Multiple submitters
- GEN1 p.Ile588Val Uncertain significance Multiple submitters
- GEN1 p.Ile60Phe Uncertain significance Multiple submitters
- GEN1 p.Ile60Val Uncertain significance Multiple submitters
- GEN1 p.Ile621Met Uncertain significance Multiple submitters
- GEN1 p.Ile628Thr Uncertain significance Multiple submitters
- GEN1 p.Ile643Val Uncertain significance Multiple submitters
- GEN1 p.Ile845Val Uncertain significance Multiple submitters
- GEN1 p.Ile847Val Uncertain significance Multiple submitters
- GEN1 p.Ile9Val Uncertain significance Multiple submitters
- GEN1 p.Leu118Phe Uncertain significance Multiple submitters
- GEN1 p.Leu33Val Uncertain significance Multiple submitters
- GEN1 p.Leu361Phe Uncertain significance Multiple submitters
- GEN1 p.Leu378Arg Uncertain significance Multiple submitters
- GEN1 p.Leu548Ile Uncertain significance Multiple submitters
- GEN1 p.Leu701Phe Uncertain significance Multiple submitters
- GEN1 p.Leu701Val Uncertain significance Multiple submitters
- GEN1 p.Leu719Ile Uncertain significance Multiple submitters
- GEN1 p.Lys175Gln Uncertain significance Multiple submitters
- GEN1 p.Lys256Glu Uncertain significance Multiple submitters
- GEN1 p.Lys344Glu Uncertain significance Multiple submitters
- GEN1 p.Lys506Arg Uncertain significance Multiple submitters
- GEN1 p.Lys704Glu Uncertain significance Multiple submitters
- GEN1 p.Lys721Glu Uncertain significance Multiple submitters
- GEN1 p.Lys749Glu Uncertain significance Multiple submitters
- GEN1 p.Lys833Asn Uncertain significance Multiple submitters
- GEN1 p.Lys872Thr Uncertain significance Multiple submitters
- GEN1 p.Lys883Asn Uncertain significance Multiple submitters
- GEN1 p.Lys88Arg Uncertain significance Multiple submitters
- GEN1 p.Lys88Glu Uncertain significance Multiple submitters
- GEN1 p.Met184Leu Uncertain significance Multiple submitters
- GEN1 p.Met184Val Uncertain significance Multiple submitters
- GEN1 p.Met426Arg Uncertain significance Multiple submitters
- GEN1 p.Met426Val Uncertain significance Multiple submitters
- GEN1 p.Met45Thr Uncertain significance Multiple submitters
- GEN1 p.Met491Val Uncertain significance Multiple submitters
- GEN1 p.Met66Val Uncertain significance Multiple submitters
- GEN1 p.Met783Arg Uncertain significance Multiple submitters
- GEN1 p.Met783Thr Uncertain significance Multiple submitters
- GEN1 p.Met820Val Uncertain significance Multiple submitters
- GEN1 p.Phe328Tyr Uncertain significance Multiple submitters
- GEN1 p.Phe905Leu Uncertain significance Multiple submitters
-
GEN1 p.Pro250Leu
Uncertain significance
Multiple submitters
GEN1-related disorder
- GEN1 p.Pro495Leu Uncertain significance Multiple submitters
- GEN1 p.Pro513Leu Uncertain significance Multiple submitters
- GEN1 p.Pro513Ser Uncertain significance Multiple submitters
- GEN1 p.Pro515Ala Uncertain significance Multiple submitters
- GEN1 p.Pro536Ser Uncertain significance Multiple submitters
- GEN1 p.Pro599Thr Uncertain significance Multiple submitters
- GEN1 p.Pro755Ala Uncertain significance Multiple submitters
- GEN1 p.Pro896Thr Uncertain significance Multiple submitters
- GEN1 p.Ser100Leu Uncertain significance Multiple submitters
- GEN1 p.Ser525Leu Uncertain significance Multiple submitters
- GEN1 p.Ser546Cys Uncertain significance Multiple submitters
- GEN1 p.Ser562Cys Uncertain significance Multiple submitters
- GEN1 p.Ser594Thr Uncertain significance Multiple submitters
- GEN1 p.Ser633Ala Uncertain significance Multiple submitters
- GEN1 p.Ser683Pro Uncertain significance Multiple submitters
- GEN1 p.Ser699Cys Uncertain significance Multiple submitters
- GEN1 p.Ser717Leu Uncertain significance Multiple submitters
- GEN1 p.Ser732Thr Uncertain significance Multiple submitters
- GEN1 p.Ser753Cys Uncertain significance Multiple submitters
- GEN1 p.Ser801Phe Uncertain significance Multiple submitters
- GEN1 p.Ser830Cys Uncertain significance Multiple submitters
- GEN1 p.Ser856Tyr Uncertain significance Multiple submitters
- GEN1 p.Ser865Arg Uncertain significance Multiple submitters
-
GEN1 p.Thr105Arg
Uncertain significance
Multiple submitters
GEN1-related prostate cancer
- GEN1 p.Thr174Arg Uncertain significance Multiple submitters
- GEN1 p.Thr303Arg Uncertain significance Multiple submitters
- GEN1 p.Thr303Ile Uncertain significance Multiple submitters
- GEN1 p.Thr40Ala Uncertain significance Multiple submitters
- GEN1 p.Thr40Ser Uncertain significance Multiple submitters
- GEN1 p.Thr438Ala Uncertain significance Multiple submitters
- GEN1 p.Thr438Arg Uncertain significance Multiple submitters
- GEN1 p.Thr535Ile Uncertain significance Multiple submitters
Predictors split 75
The independent predictors disagree with each other — read with care.
- GEN1 p.Ala320Pro Uncertain significance Multiple submitters
- GEN1 p.Arg406Gln Uncertain significance Multiple submitters
- GEN1 p.Arg93Trp Uncertain significance Multiple submitters
-
GEN1 p.Asn143Ser
Benign
Multiple submitters
hereditary neoplastic syndrome
- GEN1 p.Cys181Tyr Uncertain significance Multiple submitters
- GEN1 p.His290Pro Uncertain significance Multiple submitters
- GEN1 p.His301Tyr Uncertain significance Multiple submitters
- GEN1 p.Lys219Asn Uncertain significance Multiple submitters
- GEN1 p.Met172Thr Uncertain significance Multiple submitters
- GEN1 p.Phe359Leu Uncertain significance Multiple submitters
- GEN1 p.Pro399Ser Uncertain significance Multiple submitters
- GEN1 p.Pro421Arg Uncertain significance Multiple submitters
- GEN1 p.Val403Phe Uncertain significance Multiple submitters
- GEN1 p.Ala222Val Uncertain significance Single submitter
- GEN1 p.Ala320Thr Uncertain significance Single submitter
- GEN1 p.Ala454Pro Uncertain significance Single submitter
- GEN1 p.Arg107Ile Uncertain significance Single submitter
- GEN1 p.Arg107Ser Uncertain significance Single submitter
- GEN1 p.Arg237Ser Uncertain significance Single submitter
- GEN1 p.Arg387Ser Uncertain significance Single submitter
- GEN1 p.Asp194Val Uncertain significance Single submitter
- GEN1 p.Asp67Tyr Uncertain significance Single submitter
- GEN1 p.Cys207Ser Uncertain significance Single submitter
- GEN1 p.Cys281Phe Uncertain significance Single submitter
- GEN1 p.Cys287Trp Uncertain significance Single submitter
- GEN1 p.Cys296Arg Uncertain significance Single submitter
- GEN1 p.Cys296Ser Uncertain significance Single submitter
- GEN1 p.Cys296Tyr Uncertain significance Single submitter
- GEN1 p.Gln15Pro Uncertain significance Single submitter
- GEN1 p.Gln39His Uncertain significance Single submitter
- GEN1 p.Gln459Pro Uncertain significance Single submitter
- GEN1 p.Glu313Gln Uncertain significance Single submitter
- GEN1 p.Glu334Gly Uncertain significance Single submitter
- GEN1 p.Glu37Asp Uncertain significance Single submitter
- GEN1 p.Glu417Gly Uncertain significance Single submitter
- GEN1 p.Gly146Cys Uncertain significance Single submitter
- GEN1 p.Gly192Cys Uncertain significance Single submitter
- GEN1 p.Gly325Val Uncertain significance Single submitter
- GEN1 p.Gly390Ser Uncertain significance Single submitter
- GEN1 p.His260Arg Uncertain significance Single submitter
- GEN1 p.His260Tyr Uncertain significance Single submitter
- GEN1 p.His266Asn Uncertain significance Single submitter
- GEN1 p.His290Tyr Uncertain significance Single submitter
- GEN1 p.Ile316Thr Uncertain significance Single submitter
- GEN1 p.Ile60Ser Uncertain significance Single submitter
- GEN1 p.Leu193Met Uncertain significance Single submitter
- GEN1 p.Leu198Val Uncertain significance Single submitter
- GEN1 p.Leu204Ile Uncertain significance Single submitter
- GEN1 p.Leu204Phe Uncertain significance Single submitter
- GEN1 p.Leu361Pro Uncertain significance Single submitter
- GEN1 p.Leu375Trp Uncertain significance Single submitter
- GEN1 p.Leu389Pro Uncertain significance Single submitter
- GEN1 p.Lys175Glu Uncertain significance Single submitter
- GEN1 p.Lys271Glu Uncertain significance Single submitter
- GEN1 p.Lys404Asn Uncertain significance Single submitter
- GEN1 p.Lys42Ile Uncertain significance Single submitter
- GEN1 p.Met172Ile Uncertain significance Single submitter
- GEN1 p.Met384Thr Uncertain significance Single submitter
- GEN1 p.Phe159Leu Uncertain significance Single submitter
- GEN1 p.Phe414Leu Uncertain significance Single submitter
- GEN1 p.Phe57Leu Uncertain significance Single submitter
- GEN1 p.Phe595Leu Uncertain significance Single submitter
- GEN1 p.Pro211Gln Uncertain significance Single submitter
- GEN1 p.Pro267Gln Uncertain significance Single submitter
- GEN1 p.Pro267Ser Uncertain significance Single submitter
- GEN1 p.Pro289Ser Uncertain significance Single submitter
- GEN1 p.Ser108Pro Uncertain significance Single submitter
- GEN1 p.Ser233Arg Uncertain significance Single submitter
- GEN1 p.Ser269Pro Uncertain significance Single submitter
- GEN1 p.Ser586Arg Uncertain significance Single submitter
- GEN1 p.Ser893Arg Uncertain significance Single submitter
- GEN1 p.Thr26Ala Uncertain significance Single submitter
- GEN1 p.Trp128Arg Uncertain significance Single submitter
- GEN1 p.Trp241Arg Uncertain significance Single submitter
- GEN1 p.Val35Met Uncertain significance Single submitter
All GEN1 variants
Conflicting classifications of pathogenicity 19
- p.Ala540Val Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg787Gln Single submitter ⚠
- p.Asn477Ser Single submitter ⚠
- p.Asn571Ser Single submitter GEN1-related disorder ⚠
- p.Asn828Ser Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu864Lys Single submitter ⚠
- p.Leu689Val Single submitter ⚠
- p.Leu744Phe Single submitter ⚠
- p.Met45Ile Single submitter ⚠
- p.Met49Val Single submitter ⚠
- p.Pro481Ser Single submitter ⚠
- p.Pro724Leu Single submitter ⚠
- p.Ser842Asn Single submitter ⚠
- p.Ser877Tyr Single submitter ⚠
- p.Thr516Ala Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Val579Met Single submitter ⚠
Benign 61
- c.1071+81T>G Multiple submitters
- c.1264+113A>G Multiple submitters
- c.161+52T>G Multiple submitters
- c.162-24G>A Multiple submitters hereditary neoplastic syndrome
- c.162-36T>A Multiple submitters hereditary neoplastic syndrome
- c.348+7A>G Multiple submitters hereditary neoplastic syndrome
- c.525+107C>T Multiple submitters
- c.526-98A>G Multiple submitters
- c.636+78A>G Multiple submitters
- c.953+89A>G Multiple submitters
- c.990+22C>G Multiple submitters hereditary neoplastic syndrome
- p.Ala447= Multiple submitters hereditary neoplastic syndrome
- p.Asn143Ser Multiple submitters hereditary neoplastic syndrome ⚠
- p.Glu330Lys Multiple submitters
- p.Glu657= Multiple submitters hereditary neoplastic syndrome
- p.Ile203Val Multiple submitters hereditary neoplastic syndrome
- p.Lys839fs Multiple submitters hereditary neoplastic syndrome
- p.Lys882Glu Multiple submitters GEN1-related disorder
- p.Ser189Asn Multiple submitters GEN1-related disorder
- p.Ser310Asn Multiple submitters hereditary neoplastic syndrome
- p.Ser546= Multiple submitters hereditary neoplastic syndrome
- p.Ser92Thr Multiple submitters hereditary neoplastic syndrome
- p.Thr680Ile Multiple submitters hereditary neoplastic syndrome
- p.Thr817Ala Multiple submitters
- c.1072-234G>A Single submitter
- c.1072-283G>A Single submitter
- c.1072-286G>A Single submitter
- c.1203-170T>G Single submitter
- c.1203-4del Single submitter
- c.1264+112TA[6] Single submitter
- c.1264+124T>C Single submitter
- c.1264+133_1264+134insTATGTGTATATATATGTATACACA Single submitter
- c.1264+135AT[2] Single submitter
- c.1264+136T>C Single submitter
- c.1264+140TG[3] Single submitter
- c.1264+144TA[3] Single submitter
- c.1264+146T>C Single submitter
- c.1264+195_1264+196insCATA Single submitter
- c.1264+196_1264+205del Single submitter
- c.1264+214TA[2] Single submitter
- c.1264+215_1264+260del Single submitter
- c.1264+246TA[2] Single submitter
- c.1264+251AC[4] Single submitter
- c.1264+76TA[7] Single submitter
- c.1264+76TA[9] Single submitter
- c.1264+91AC[4] Single submitter
- c.1264+91AC[6] Single submitter
- c.1265-116C>T Single submitter
- c.1265-195A>G Single submitter
- c.1409-9del Single submitter
- c.348+116C>A Single submitter
- c.348+166T>C Single submitter
- c.526-223G>A Single submitter
- c.636+259A>G Single submitter
- c.637-63_637-61del Single submitter
- c.710+204T>C Single submitter
- c.803-253A>T Single submitter
- c.954-4del Single submitter
- c.954-4dup Single submitter
- p.Gln784= Single submitter
- c.1072-185G>A No assertion criteria
Benign/Likely benign 4
- p.Arg898Cys Multiple submitters GEN1-related disorder
- p.Glu884Asp Multiple submitters
- p.Lys812Arg Multiple submitters
- p.Tyr815= Multiple submitters
Likely benign 381
Showing the top 300 by review status; the full set is in the sitemap.
- c.636+17A>G Multiple submitters
- p.Ala131= Multiple submitters
- p.Ala28= Multiple submitters
- p.Ala552= Multiple submitters
- p.Ala558= Multiple submitters
- p.Ala620= Multiple submitters
- p.Ala641= Multiple submitters
- p.Ala709= Multiple submitters
- p.Ala83= Multiple submitters
- p.Arg240Gln Multiple submitters
- p.Arg302His Multiple submitters
- p.Arg603= Multiple submitters
- p.Arg89= Multiple submitters
- p.Asn688= Multiple submitters
- p.Asn838= Multiple submitters
- p.Asn885= Multiple submitters
- p.Asp149= Multiple submitters
- p.Asp671= Multiple submitters
- p.Asp803= Multiple submitters
- p.Gln541= Multiple submitters
- p.Glu591= Multiple submitters
- p.Glu617= Multiple submitters
- p.Glu658= Multiple submitters
- p.Gly106= Multiple submitters
- p.Gly125= Multiple submitters
- p.Gly162= Multiple submitters
- p.Gly206= Multiple submitters
- p.Gly325= Multiple submitters
- p.Gly510= Multiple submitters
- p.Gly592= Multiple submitters
- p.Gly653= Multiple submitters
- p.Gly712= Multiple submitters
- p.Gly76= Multiple submitters
- p.Gly811= Multiple submitters
- p.Gly888= Multiple submitters
- p.Gly98= Multiple submitters
- p.Ile452= Multiple submitters
- p.Ile553= Multiple submitters
- p.Ile601= Multiple submitters
- p.Ile700= Multiple submitters
- p.Leu121= Multiple submitters
- p.Leu191= Multiple submitters
- p.Leu198= Multiple submitters
- p.Leu223= Multiple submitters
- p.Leu258= Multiple submitters
- p.Leu355= Multiple submitters
- p.Leu436= Multiple submitters
- p.Leu478= Multiple submitters
- p.Leu526= Multiple submitters
- p.Leu583= Multiple submitters
- p.Leu63= Multiple submitters
- p.Leu660= Multiple submitters
- p.Leu667= Multiple submitters
- p.Leu674= Multiple submitters
- p.Leu682= Multiple submitters
- p.Leu689= Multiple submitters
- p.Leu738= Multiple submitters
- p.Leu878= Multiple submitters
- p.Lys104= Multiple submitters
- p.Lys111= Multiple submitters
- p.Lys14= Multiple submitters
- p.Lys883= Multiple submitters
- p.Pro127= Multiple submitters
- p.Pro18= Multiple submitters
- p.Pro351= Multiple submitters
- p.Pro515= Multiple submitters
- p.Pro536= Multiple submitters
- p.Pro685= Multiple submitters
- p.Pro79= Multiple submitters
- p.Pro868= Multiple submitters
- p.Ser100= Multiple submitters
- p.Ser185= Multiple submitters
- p.Ser262= Multiple submitters
- p.Ser509= Multiple submitters
- p.Ser509Trp Multiple submitters GEN1-related disorder
- p.Ser512= Multiple submitters
- p.Ser612= Multiple submitters
- p.Ser702= Multiple submitters
- p.Ser778= Multiple submitters
- p.Ser829= Multiple submitters
- p.Thr153= Multiple submitters
- p.Thr165= Multiple submitters
- p.Thr360= Multiple submitters
- p.Thr40= Multiple submitters
- p.Thr516= Multiple submitters
- p.Thr761= Multiple submitters
- p.Thr765= Multiple submitters
- p.Thr816= Multiple submitters
- p.Tyr286= Multiple submitters
- p.Tyr424= Multiple submitters
- p.Tyr857= Multiple submitters
- p.Val148= Multiple submitters
- p.Val331= Multiple submitters
- p.Val35= Multiple submitters
- p.Val377= Multiple submitters
- p.Val579= Multiple submitters
- p.Val693= Multiple submitters
- c.1071+18C>T Single submitter
- c.1071+20T>C Single submitter
- c.1071+21_1071+23del Single submitter
- c.1072-13A>G Single submitter
- c.1072-19A>G Single submitter
- c.1072-4A>G Single submitter
- c.1072-4del Single submitter
- c.1072-9T>A Single submitter
- c.1202+13A>C Single submitter
- c.1202+16G>A Single submitter
- c.1202+16G>C Single submitter
- c.1202+7T>G Single submitter
- c.1264+12C>G Single submitter
- c.1264+13T>C Single submitter
- c.1265-17T>A Single submitter
- c.1265-35_1265-7del Single submitter
- c.1265-4T>G Single submitter
- c.1265-6T>C Single submitter
- c.1408+16G>A Single submitter
- c.1408+19A>G Single submitter
- c.161+18A>G Single submitter
- c.161+20A>G Single submitter
- c.162-11A>G Single submitter
- c.348+13A>T Single submitter
- c.348+19T>G Single submitter
- c.349-15G>C Single submitter
- c.525+11T>C Single submitter
- c.525+13T>C Single submitter
- c.525+18C>G Single submitter
- c.525+22_525+23del Single submitter
- c.526-20T>G Single submitter
- c.526-4T>C Single submitter
- c.526-6_526-3del Single submitter
- c.637-10T>A Single submitter
- c.637-11C>T Single submitter
- c.637-16T>C Single submitter
- c.710+10A>G Single submitter
- c.710+10A>T Single submitter
- c.711-13C>A Single submitter
- c.802+8G>A Single submitter
- c.803-10C>G Single submitter
- c.803-12G>T Single submitter
- c.803-13G>T Single submitter
- c.803-14G>C Single submitter
- c.803-17T>C Single submitter
- c.803-4A>G Single submitter
- c.803-6A>G Single submitter
- c.953+10T>C Single submitter
- c.953+12dup Single submitter
- c.953+12T>A Single submitter
- c.953+20C>T Single submitter
- c.954-16A>G Single submitter
- c.954-18A>G Single submitter
- c.991-13T>G Single submitter
- c.991-4C>T Single submitter
- p.Ala135= Single submitter
- p.Ala163= Single submitter
- p.Ala197= Single submitter
- p.Ala202= Single submitter
- p.Ala38= Single submitter
- p.Ala425= Single submitter
- p.Ala435= Single submitter
- p.Ala448= Single submitter
- p.Ala454= Single submitter
- p.Ala524= Single submitter
- p.Ala540= Single submitter
- p.Ala581= Single submitter
- p.Ala774= Single submitter
- p.Arg279Lys Single submitter
- p.Arg638= Single submitter
- p.Arg733= Single submitter
- p.Arg855= Single submitter
- p.Arg898Ser Single submitter
- p.Arg93= Single submitter
- p.Asn154= Single submitter
- p.Asn21= Single submitter
- p.Asn276= Single submitter
- p.Asn314= Single submitter
- p.Asn338= Single submitter
- p.Asn393= Single submitter
- p.Asn395= Single submitter
- p.Asn504= Single submitter
- p.Asn527= Single submitter
- p.Asn642= Single submitter
- p.Asn694= Single submitter
- p.Asn710= Single submitter
- p.Asn730= Single submitter
- p.Asn760= Single submitter
- p.Asn767Ser Single submitter
- p.Asn885Asp Single submitter
- p.Asn886= Single submitter
- p.Asp155= Single submitter
- p.Asp157= Single submitter
- p.Asp272= Single submitter
- p.Asp291= Single submitter
- p.Asp306= Single submitter
- p.Asp383= Single submitter
- p.Asp67= Single submitter
- p.Asp734= Single submitter
- p.Cys117= Single submitter
- p.Cys151= Single submitter
- p.Cys261= Single submitter
- p.Cys321= Single submitter
- p.Cys323= Single submitter
- p.Cys372= Single submitter
- p.Cys413= Single submitter
- p.Cys497= Single submitter
- p.Cys766= Single submitter
- p.Gln15= Single submitter
- p.Gln164= Single submitter
- p.Gln251= Single submitter
- p.Gln308= Single submitter
- p.Gln349= Single submitter
- p.Gln39= Single submitter
- p.Gln631= Single submitter
- p.Gln670= Single submitter
- p.Gln729= Single submitter
- p.Gln805= Single submitter
- p.Gln818= Single submitter
- p.Gln91= Single submitter
- p.Glu220= Single submitter
- p.Glu304= Single submitter
- p.Glu362= Single submitter
- p.Glu365= Single submitter
- p.Glu37= Single submitter
- p.Glu433= Single submitter
- p.Glu520= Single submitter
- p.Glu731= Single submitter
- p.Glu75= Single submitter
- p.Glu77= Single submitter
- p.Glu804= Single submitter
- p.Glu861Gly Single submitter
- p.Glu863= Single submitter
- p.Gly133= Single submitter
- p.Gly145Ser Single submitter
- p.Gly218= Single submitter
- p.Gly231= Single submitter
- p.Gly277= Single submitter
- p.Gly390= Single submitter
- p.Gly663= Single submitter
- p.Gly740= Single submitter
- p.Gly740Glu Single submitter
- p.Gly888Val Single submitter
- p.His147= Single submitter
- p.His178= Single submitter
- p.His260= Single submitter
- p.His381= Single submitter
- p.His490= Single submitter
- p.His52= Single submitter
- p.His575= Single submitter
- p.His575Arg Single submitter
- p.His608= Single submitter
- p.His822= Single submitter
- p.His846= Single submitter
- p.Ile126= Single submitter
- p.Ile226= Single submitter
- p.Ile228= Single submitter
- p.Ile316= Single submitter
- p.Ile499= Single submitter
- p.Ile60= Single submitter
- p.Ile664= Single submitter
- p.Ile845= Single submitter
- p.Ile847= Single submitter
- p.Ile86= Single submitter
- p.Leu118= Single submitter
- p.Leu210= Single submitter
- p.Leu235= Single submitter
- p.Leu252= Single submitter
- p.Leu253= Single submitter
- p.Leu280= Single submitter
- p.Leu309= Single submitter
- p.Leu31= Single submitter
- p.Leu33= Single submitter
- p.Leu353= Single submitter
- p.Leu375= Single submitter
- p.Leu397= Single submitter
- p.Leu437= Single submitter
- p.Leu444= Single submitter
- p.Leu493= Single submitter
- p.Leu529= Single submitter
- p.Leu531= Single submitter
- p.Leu548Pro Single submitter
- p.Leu6= Single submitter
- p.Leu618= Single submitter
- p.Leu632= Single submitter
- p.Leu647= Single submitter
- p.Leu743= Single submitter
- p.Leu790Val Single submitter
- p.Leu797= Single submitter
- p.Lys188= Single submitter
- p.Lys344= Single submitter
- p.Lys374= Single submitter
- p.Lys42= Single submitter
- p.Lys420= Single submitter
- p.Lys466= Single submitter
- p.Lys474= Single submitter
- p.Lys533= Single submitter
- p.Lys645= Single submitter
- p.Lys721= Single submitter
- p.Lys736= Single submitter
- p.Lys764= Single submitter
- p.Lys788= Single submitter
- p.Lys80= Single submitter
Uncertain significance 1047
Showing the top 300 by review status; the full set is in the sitemap.
- c.1264+1G>T Multiple submitters
- c.953+4A>G Multiple submitters hereditary neoplastic syndrome
- p.Ala135Ser Multiple submitters ⚠
- p.Ala197Thr Multiple submitters ⚠
- p.Ala320Pro Multiple submitters ⚠
- p.Ala447Val Multiple submitters ⚠
- p.Ala448Thr Multiple submitters ⚠
- p.Ala454Thr Multiple submitters ⚠
- p.Ala524Pro Multiple submitters ⚠
- p.Ala600Ser Multiple submitters ⚠
- p.Ala860Val Multiple submitters ⚠
- p.Arg20Cys Multiple submitters ⚠
- p.Arg20Leu Multiple submitters ⚠
- p.Arg240Trp Multiple submitters ⚠
- p.Arg275Cys Multiple submitters ⚠
- p.Arg275His Multiple submitters ⚠
- p.Arg302Cys Multiple submitters ⚠
- p.Arg302Leu Multiple submitters ⚠
- p.Arg358Ser Multiple submitters ⚠
- p.Arg406Gln Multiple submitters ⚠
- p.Arg406Leu Multiple submitters ⚠
- p.Arg787Trp Multiple submitters ⚠
- p.Arg898His Multiple submitters ⚠
- p.Arg904Ser Multiple submitters ⚠
- p.Arg93Trp Multiple submitters ⚠
- p.Asn154Asp Multiple submitters ⚠
- p.Asn169Asp Multiple submitters
- p.Asn173Asp Multiple submitters ⚠
- p.Asn315Asp Multiple submitters ⚠
- p.Asn368Thr Multiple submitters ⚠
- p.Asn4Lys Multiple submitters ⚠
- p.Asn571Ile Multiple submitters ⚠
- p.Asn576Asp Multiple submitters ⚠
- p.Asn627His Multiple submitters ⚠
- p.Asn885Lys Multiple submitters ⚠
- p.Asp428Asn Multiple submitters ⚠
- p.Asp514Ala Multiple submitters ⚠
- p.Asp514Tyr Multiple submitters ⚠
- p.Asp609Asn Multiple submitters ⚠
- p.Asp648Asn Multiple submitters ⚠
- p.Asp692His Multiple submitters ⚠
- p.Asp722Tyr Multiple submitters ⚠
- p.Asp869Val Multiple submitters ⚠
- p.Cys181Tyr Multiple submitters ⚠
- p.Cys261Arg Multiple submitters ⚠
- p.Cys298Trp Multiple submitters ⚠
- p.Cys298Tyr Multiple submitters ⚠
- p.Cys413Arg Multiple submitters ⚠
- p.Cys497Ser Multiple submitters ⚠
- p.Cys497Tyr Multiple submitters ⚠
- p.Cys537Arg Multiple submitters ⚠
- p.Cys715Tyr Multiple submitters ⚠
- p.Gln103Arg Multiple submitters ⚠
- p.Gln251Arg Multiple submitters ⚠
- p.Gln488Arg Multiple submitters ⚠
- p.Gln670Lys Multiple submitters ⚠
- p.Gln729His Multiple submitters ⚠
- p.Gln899Arg Multiple submitters ⚠
- p.Gln899His Multiple submitters ⚠
- p.Gln8Lys Multiple submitters ⚠
- p.Glu293Lys Multiple submitters ⚠
- p.Glu386Lys Multiple submitters ⚠
- p.Glu475Gly Multiple submitters ⚠
- p.Glu566Ala Multiple submitters ⚠
- p.Glu613Lys Multiple submitters ⚠
- p.Glu617Lys Multiple submitters ⚠
- p.Glu884Gly Multiple submitters ⚠
- p.Gly268Asp Multiple submitters ⚠
- p.Gly410Glu Multiple submitters
- p.Gly811Val Multiple submitters ⚠
- p.His178Asn Multiple submitters GEN1-related prostate cancer ⚠
- p.His178Gln Multiple submitters ⚠
- p.His290Pro Multiple submitters ⚠
- p.His301Tyr Multiple submitters ⚠
- p.His423Arg Multiple submitters ⚠
- p.His490Asn Multiple submitters ⚠
- p.His608Arg Multiple submitters ⚠
- p.His837Arg Multiple submitters ⚠
- p.Ile17Val Multiple submitters ⚠
- p.Ile226Thr Multiple submitters ⚠
- p.Ile316Ser Multiple submitters ⚠
- p.Ile400Val Multiple submitters ⚠
- p.Ile452Met Multiple submitters ⚠
- p.Ile463Met Multiple submitters ⚠
- p.Ile553Met Multiple submitters ⚠
- p.Ile577Thr Multiple submitters ⚠
- p.Ile588Val Multiple submitters ⚠
- p.Ile60Phe Multiple submitters ⚠
- p.Ile60Val Multiple submitters ⚠
- p.Ile621Met Multiple submitters ⚠
- p.Ile628Thr Multiple submitters ⚠
- p.Ile643Val Multiple submitters ⚠
- p.Ile845Val Multiple submitters ⚠
- p.Ile847Val Multiple submitters ⚠
- p.Ile9Val Multiple submitters ⚠
- p.Leu118Phe Multiple submitters ⚠
- p.Leu33Val Multiple submitters ⚠
- p.Leu361Phe Multiple submitters ⚠
- p.Leu378Arg Multiple submitters ⚠
- p.Leu548Ile Multiple submitters ⚠
- p.Leu701Phe Multiple submitters ⚠
- p.Leu701Val Multiple submitters ⚠
- p.Leu719Ile Multiple submitters ⚠
- p.Lys175Gln Multiple submitters ⚠
- p.Lys219Asn Multiple submitters ⚠
- p.Lys256Glu Multiple submitters ⚠
- p.Lys344Glu Multiple submitters ⚠
- p.Lys506Arg Multiple submitters ⚠
- p.Lys704Glu Multiple submitters ⚠
- p.Lys721Glu Multiple submitters ⚠
- p.Lys749Glu Multiple submitters ⚠
- p.Lys833Asn Multiple submitters ⚠
- p.Lys872Thr Multiple submitters ⚠
- p.Lys883Asn Multiple submitters ⚠
- p.Lys88Arg Multiple submitters ⚠
- p.Lys88Glu Multiple submitters ⚠
- p.Met172Thr Multiple submitters ⚠
- p.Met184Leu Multiple submitters ⚠
- p.Met184Val Multiple submitters ⚠
- p.Met426Arg Multiple submitters ⚠
- p.Met426Val Multiple submitters ⚠
- p.Met45Thr Multiple submitters ⚠
- p.Met491Val Multiple submitters ⚠
- p.Met66Val Multiple submitters ⚠
- p.Met783Arg Multiple submitters ⚠
- p.Met783Thr Multiple submitters ⚠
- p.Met820Val Multiple submitters ⚠
- p.Phe328Tyr Multiple submitters ⚠
- p.Phe359Leu Multiple submitters ⚠
- p.Phe595Ser Multiple submitters
- p.Phe905Leu Multiple submitters ⚠
- p.Pro250Leu Multiple submitters GEN1-related disorder ⚠
- p.Pro399Ser Multiple submitters ⚠
- p.Pro421Arg Multiple submitters ⚠
- p.Pro495Leu Multiple submitters ⚠
- p.Pro513Leu Multiple submitters ⚠
- p.Pro513Ser Multiple submitters ⚠
- p.Pro515Ala Multiple submitters ⚠
- p.Pro536Ser Multiple submitters ⚠
- p.Pro599Thr Multiple submitters ⚠
- p.Pro755Ala Multiple submitters ⚠
- p.Pro896Thr Multiple submitters ⚠
- p.Ser100Leu Multiple submitters ⚠
- p.Ser525Leu Multiple submitters ⚠
- p.Ser546Cys Multiple submitters ⚠
- p.Ser562Cys Multiple submitters ⚠
- p.Ser594Thr Multiple submitters ⚠
- p.Ser633Ala Multiple submitters ⚠
- p.Ser683Pro Multiple submitters ⚠
- p.Ser699Cys Multiple submitters ⚠
- p.Ser717Leu Multiple submitters ⚠
- p.Ser732Thr Multiple submitters ⚠
- p.Ser753Cys Multiple submitters ⚠
- p.Ser801Phe Multiple submitters ⚠
- p.Ser830Cys Multiple submitters ⚠
- p.Ser856Tyr Multiple submitters ⚠
- p.Ser865Arg Multiple submitters ⚠
- p.Thr105Arg Multiple submitters GEN1-related prostate cancer ⚠
- p.Thr174Arg Multiple submitters ⚠
- p.Thr303Arg Multiple submitters ⚠
- p.Thr303Ile Multiple submitters ⚠
- p.Thr40Ala Multiple submitters ⚠
- p.Thr40Ser Multiple submitters ⚠
- p.Thr438Ala Multiple submitters ⚠
- p.Thr438Arg Multiple submitters ⚠
- p.Thr535Ile Multiple submitters ⚠
- p.Thr587Ala Multiple submitters ⚠
- p.Thr587Ile Multiple submitters ⚠
- p.Thr587Ser Multiple submitters ⚠
- p.Thr593Pro Multiple submitters ⚠
- p.Thr640Pro Multiple submitters ⚠
- p.Thr765Ser Multiple submitters ⚠
- p.Thr816Arg Multiple submitters ⚠
- p.Thr850Ala Multiple submitters ⚠
- p.Thr871Ser Multiple submitters ⚠
- p.Thr889Ala Multiple submitters ⚠
- p.Thr889Ser Multiple submitters ⚠
- p.Trp101Cys Multiple submitters ⚠
- p.Trp418Gly Multiple submitters ⚠
- p.Tyr209Asn Multiple submitters ⚠
- p.Tyr286His Multiple submitters ⚠
- p.Tyr286Phe Multiple submitters ⚠
- p.Tyr292Cys Multiple submitters ⚠
- p.Tyr370Cys Multiple submitters ⚠
- p.Tyr684His Multiple submitters ⚠
- p.Val263Ile Multiple submitters ⚠
- p.Val29Ile Multiple submitters ⚠
- p.Val331Ile Multiple submitters ⚠
- p.Val377Ile Multiple submitters ⚠
- p.Val403Leu Multiple submitters ⚠
- p.Val403Phe Multiple submitters ⚠
- p.Val48Ile Multiple submitters ⚠
- p.Val693Ile Multiple submitters ⚠
- p.Val703Ile Multiple submitters ⚠
- p.Val754Ala Multiple submitters ⚠
- c.1071+1G>T Single submitter
- c.1072-12T>C Single submitter
- c.1072-7_1072-2del Single submitter
- c.1202+4A>T Single submitter
- c.1202+6G>C Single submitter
- c.1203-1G>T Single submitter
- c.1264+6T>C Single submitter
- c.1264+7A>G Single submitter
- c.1408+1G>A Single submitter
- c.1408+4A>G Single submitter
- c.1409-1G>A Single submitter
- c.1409-1G>C Single submitter
- c.1409-2A>G Single submitter
- c.1409-3C>T Single submitter
- c.161+5A>T Single submitter
- c.162-2A>G Single submitter
- c.711-20A>G Single submitter
- c.953+1G>A Single submitter
- c.991-2A>G Single submitter
- c.991-3T>C Single submitter
- p.Ala131Ser Single submitter ⚠
- p.Ala132Asp Single submitter ⚠
- p.Ala132Ser Single submitter ⚠
- p.Ala135Val Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala140Val Single submitter ⚠
- p.Ala197Asp Single submitter ⚠
- p.Ala197Gly Single submitter ⚠
- p.Ala197Ser Single submitter ⚠
- p.Ala202Thr Single submitter ⚠
- p.Ala222Val Single submitter ⚠
- p.Ala259Ser Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala320Thr Single submitter ⚠
- p.Ala38Gly Single submitter ⚠
- p.Ala435Asp Single submitter ⚠
- p.Ala435Ser Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala454Pro Single submitter ⚠
- p.Ala558Pro Single submitter ⚠
- p.Ala558Val Single submitter ⚠
- p.Ala600Pro Single submitter ⚠
- p.Ala620Ser Single submitter ⚠
- p.Ala620Thr Single submitter ⚠
- p.Ala620Val Single submitter ⚠
- p.Ala641Ser Single submitter ⚠
- p.Ala709fs Single submitter
- p.Ala709Gly Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala709Val Single submitter ⚠
- p.Ala774Asp Single submitter ⚠
- p.Ala774Pro Single submitter ⚠
- p.Ala807Ser Single submitter ⚠
- p.Ala807Val Single submitter ⚠
- p.Ala860Asp Single submitter ⚠
- p.Ala860Gly Single submitter ⚠
- p.Ala860Pro Single submitter ⚠
- p.Arg107Ile Single submitter ⚠
- p.Arg107Ser Single submitter ⚠
- p.Arg115fs Single submitter
- p.Arg168Gly Single submitter ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg195Gly Single submitter ⚠
- p.Arg195Thr Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg237Ser Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg347Gly Single submitter ⚠
- p.Arg350fs Single submitter
- p.Arg350Lys Single submitter ⚠
- p.Arg358Lys Single submitter ⚠
- p.Arg387fs Single submitter
- p.Arg387Ser Single submitter ⚠
- p.Arg392Lys Single submitter ⚠
- p.Arg401Gln Single submitter hereditary neoplastic syndrome ⚠
- p.Arg401Ter Single submitter
- p.Arg406Gly Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg470Leu Single submitter ⚠
- p.Arg59Cys Single submitter ⚠
- p.Arg59fs Single submitter
- p.Arg59His Single submitter ⚠
- p.Arg59Pro Single submitter ⚠
- p.Arg638Gly Single submitter ⚠
- p.Arg638Thr Single submitter ⚠
- p.Arg677Gln Single submitter ⚠
- p.Arg677Leu Single submitter ⚠
- p.Arg733Gly Single submitter ⚠
- p.Arg733Ser Single submitter ⚠
- p.Arg733Thr Single submitter ⚠
- p.Arg769Ser Single submitter ⚠
- p.Arg787Gly Single submitter ⚠
- p.Arg799Ser Single submitter ⚠
- p.Arg855Lys Single submitter ⚠
- p.Arg898Leu Single submitter ⚠
- p.Arg904Thr Single submitter ⚠
- p.Arg93Gln Single submitter ⚠
- p.Arg93Pro Single submitter ⚠
- p.Asn154Ser Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asn239Asp Single submitter ⚠
- p.Asn239Thr Single submitter ⚠
- p.Asn247Asp Single submitter ⚠